Ostalo
https://doi.org/10.3325/cmj.2017.58.416
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
Stela Živčić-Ćosić
; Department of Nephrology Dialysis and Kidney TransplantationDepartment of Internal MedicineUniversity Hospital Center Rijekaand Faculty of Medicine, University of Rijeka, Croatia
Karin Mayer
; Center for Human Genetics and Laboratory DiagnosticsDepartment of Molecular Genetics,Dr. Klein, Dr. Rost and colleagues Martinsried, Germany
Gordana Đorđević
; Department of Pathology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia
Mark Nellist
; Department of Clinical Genetics, Erasmus Medical Center,Rotterdam, the Netherlands
Marianne Hoogeveen-Westerveld
; Department of Clinical Genetics, Erasmus Medical Center,Rotterdam, the Netherlands
Damir Miletić
; Department of Radiology University Hospital Center Rijekaand Faculty of Medicine, Universityof Rijeka, Rijeka, Croatia
Sanjin Rački
; Department of Nephrology Dialysis and Kidney TransplantationDepartment of Internal MedicineUniversity Hospital Center Rijekaand Faculty of Medicine, University of Rijeka, Croatia
Hanns-Georg Klein
; Center for Human Genetics and Laboratory DiagnosticsDepartment of Molecular Genetics,Dr. Klein, Dr. Rost and colleagues Martinsried, Germany
Zlatko Trobonjača
; Department of Physiology and Immunology, Faculty of MedicineUniversity of Rijeka, Rijeka, Croatia
Sažetak
We presented an extremely severe case of tuberous sclerosis
complex (TSC) in a female patient with recurring, lifethreatening
bleeding complications related to renal angiomyolipomas.
Massive intratumoral hemorrhage required
surgical removal of both angiomyolipomatous kidneys
and kidney transplantation. During the follow-up period,
the patient developed severe metrorrhagia that eventually
led to hysterectomy and salpingo-oophorectomy. Bleeding
from the operative sites caused the loss of the first kidney
transplant received from the mother, and immediate
hemorrhagic shock led to the loss of the second, cadaveric
kidney allograft. The third kidney transplant had a successful
outcome. Pathological analysis of all tissue specimens
showed TSC-associated lesions and deformed blood vessels
in the surgically removed organs. Molecular genetic
analysis of TSC1 and TSC2 in the DNA of peripheral leukocytes
identified a novel TSC2 c.3599G>C (p.R1200P) variant.
Functional assessment confirmed the likely pathogenicity
of the TSC2 c.3599G>C (p.R1200P) variant. To the best of
our knowledge, this is the first report of the c.3599G>C
(p.R1200P) variant in exon 29 of the TSC2 gene related to a
severe clinical course and multiple kidney transplants in a
patient with TSC.
Ključne riječi
Hrčak ID:
200235
URI
Datum izdavanja:
28.12.2017.
Posjeta: 809 *